Allele Registry

Canonical Allele Identifier: PA2499256923

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV001327246

RCV003333151

ClinVar Variation:

1026755

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371065.1:p.Pro254Ser	CA7546897 NM_001384136.1:c.760C>T